Anne Slavotinek, PhD, MBBS
- Director, Division of Human Genetics
- Professor, UC Department of Pediatrics
- anne.slavotinek@cchmc.org
- Board Certified
About
Biography
As a geneticist, I see various conditions and patients of all ages. Genetic conditions are common, although some are individually rare. I'm interested in discovering the cause of rare diseases, including congenital disabilities or anomalies that affect how one grows and develops. The idea is that knowledge about the cause of genetic conditions will one day lead to treatments.
My work in the clinic allows me to evaluate and treat patients. After clinic, I often think about the patients and families I've seen and try to do something more, looking for additional resources, trying to obtain research testing, or involving someone studying the condition who can view my patients from a different perspective.
I became interested in genetics after attending a division seminar for the first time. The talk featured the discovery of a new gene and a novel mechanism for causing disease. I found it incredibly interesting but never dreamed of working in medical genetics as a doctor. However, I was working in an institute that focused on genetics research. One day, while looking for jobs, I saw a position advertised for clinical training in medical genetics. "That's it!" I remember thinking to myself. "That's what I want to do.” I was fortunate enough to get that job and start my career in a growing field of medical care that many find uniquely rewarding.
I'm co-editor of the American Journal of Medical Genetics, a journal focused on medical genetics. I'm also a past Chair of the American Board of Medical Genetics and Genomics.
When I’m not working, I like to be outdoors. Growing up in Australia taught me to love nature.
MBBS: University of Adelaide, South Australia, 1987.
PhD: Flinders University, South Australia, 1995.
Registrar and Senior Registrar: Churchill Hospital, Oxford, United Kingdom and St. Mary's Hospital, Manchester, United Kingdom.
Residency: National Human Genome Research Institute, National Institutes of Health.
Interests
Medical genetics; dysmorphology
Services and Specialties
Interests
Developmental eye defects; genomics; multiple congenital anomaly syndromes
Research Areas
Insurance Information
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Publications
Newly identified ARF3 variants strengthen the causal link between Golgi fragmentation and brain malformations. European Journal of Human Genetics. 2026.
International approaches to early identification of rare diseases and precision medicine. Pediatric Research. 2025.
Nance-Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes. American Journal of Medical Genetics, Part A. 2025; e64289.
A Novel De Novo KDM3B Variant in the Youngest Reported Male Patient With Diets-Jongmans Syndrome and Facial Asymmetry. Clinical Genetics. 2025.
Expanding Access to Genome Sequencing: Higher Diagnostic Yield in Self-Referred Participants From the CincyKidsSeq Study and Implications for Hybrid Models of Genetic Service Delivery. Clinical Genetics. 2025.
Detection of the Heterozygous Recurrent MAX p.(Arg60Gln) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly-Macrocephaly Syndrome. Clinical Genetics. 2025.
Case Report: Association of Ocular Colobomas With a Novel Missense Variant in CDC42, a Member of the Rho Family of Small GTPases. Clinical Genetics. 2025; 108(5):589-593.
An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser. Genome Medicine. 2025; 17(1):127.
New patients with duplication of the pituitary gland-plus syndrome, including a PTCH2 variant and a literature review. Journal of Medical Genetics. 2025; 62(11):726-733.
Neonatal Inflammatory Skin and Bowel Disease 1 (NISBD1): A Case of ADAM17 Homozygous Mutation. Pediatric Dermatology. 2025.
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